gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06526895 (NFE)
Genomes Max Group AF
0.06526895 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25842723T>G , CM000668.2:g.25842723T>G | GRCh38 |
| NC_000006.11:g.25842951T>G , CM000668.1:g.25842951T>G | GRCh37 |
| NC_000006.10:g.25950930T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481949.6:c.301+2657A>C | ||
| ENST00000505420.5:c.159-916A>C | ENSP00000424027.1:n.159-916A>C |